What is Tetralogy of Fallot? Three cases of the condition affecting Jimmy Kimmel’s son

It’s not often that a late-night talk show devotes a whole segment to a heart condition. But that’s what happened last night on Jimmy Kimmel Live. In his monologue, Kimmel tearfully told the story of his son Billy’s birth and subsequent diagnosis with Tetralogy of Fallot.

“A very attentive nurse at Cedars Sinai Hospital, her name is Nanush, was checking him out, and heard a murmur in his heart, which is common in newborn babies,” he explained. “But she also noticed he was a bit purple, which is not common.” The healthcare team ordered immediate tests.

“They determined he wasn’t getting enough oxygen into his blood. They did an echocardiogram, which is a sonogram of the heart, and found that Billy was born with a heart disease, something called Tetralogy of Fallot with pulmonary atresia.”

What is Tetralogy of Fallot?

Tetralogy of Fallot is a congenital heart disease affecting one in every 10,000 births. Tetralogy means “fourfold” — referring to the number of issues present in this heart defect. The four issues are: a hole between the lower chambers in the heart, an obstruction from the heart to the lungs, defective positioning of the aorta, and an enlargement of the muscles surrounding the right chamber. This defect allows deoxygenated blood into circulation causing cyanosis (blue coloring of the skin). Tetralogy of Fallot can be discovered through hearing a heart murmur or by seeing cyanosis, as the nurse did in Billy Kimmel’s case. The defect can also be spotted on X-rays.

Though Tetralogy of Fallot is relatively uncommon, many cases have been shared by healthcare professionals on the Figure 1 platform. The following cases demonstrate the features of the condition and how it is treated.

1. Cyanosis in a newborn baby

There are many possible causes of cyanosis in a newborn  — and its appearance is always reason for more investigation. When it appears several hours after birth, as it apparently did in Billy Kimmel’s case, pneumonia or aspiration (water in the lungs) are suspected. Cyanotic congenital heart disease — such as Tetrology of Fallot — is a less common cause. In the case shown above, the healthcare professionals on Figure 1 worked through the tests and treatments needed to determine the cause of the child’s cyanosis.

2. An X-ray of a boot-shaped heart

This scan shared by Cincinnati Children’s Hospital on Figure 1 shows a “boot-shaped heart” with upturned cardiac apex (black arrow) from right ventricular hypertrophy/dilation. In this patient, the pulmonic valve is absent with massive enlargement of the pulmonary arteries (white arrows). Absence of the pulmonic valve is found in 3% of Tetralogy of Fallot patients and leads to pulmonic regurgitation — the circulation of blood that hasn’t properly passed through the lungs — as well as compression of the trachea/bronchi by the pulmonary arteries.

3. What surgical repair looks like

Kimmel finished his story by explaining his son had undergone surgery to open the pulmonary valve in his heart. He will need another open-heart surgery operation in three to six months and will have a third non-invasive surgery in his early teens.

This image shared on Figure 1 shows a surgical repair in a patient with Tetralogy of Fallot. This patient was 19-years-old, and was having the hole in the septum between the left and right ventricles repaired. The surgeons also replaced the pulmonary valve.

What are the longterm outcomes for patients with Tetralogy of Fallot? A 2009 study published in the European Journal of Cardio-thoracic Surgery followed four decades of people who had a surgical repair, and thirty years after repair, survival was slightly above 80%. The authors added, “If trends in late risks match those of the earliest repairs, 40-year survival will be ~90% for children repaired in the modern era.”

Interested in seeing more cases of Tetralogy of Fallot? Join Figure 1.